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Case report

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia

Dan Xia Xiaofang Peng Zi-Hao Deng Shuyun Deng Zhan-Wen He Jie-Ming Zhang Xiaoqin Xiao Xi Sun Xiao Qian Xueyuan Zhang Li-Yang Liang Xiaojuan Li
Aug 2026 · Human Genetics · Vol 145 · 0 citations · 19 references
Medicine

TL;DR

SF3B2’s role as a loss-of-function disease gene is reinforced and the importance of variant-specific molecular characterization in understanding CFM is highlighted, as well as the importance of variant-specific molecular characterization in understanding functional consequences.

DOI PubMed Semantic Scholar
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